Have mommies ever heard of Timothy syndrome? Let’s get to know more about this disorder, including symptoms, causes, and how to overcome it.
Timothy syndrome (TS) is a genetic disorder that interferes with the rhythm of the heart. It can also cause congenital heart defects and hinder your little one’s development. Children born with this condition usually have distinctive facial features, fused fingers and toes (syndactyly), and exhibit autism spectrum disorder.
In the past, most children born with Timothy syndrome died before the age of three—usually from sudden cardiac arrest. However, as technology and treatment advances, the risk of death decreases.
Although the number of people with TS is not known with certainty, the cases are quite rare. In an international study, only 17 cases of TS were diagnosed over a 22 year period.
Symptoms of Timothy syndrome
The hallmark of TS is long QT syndrome, a situation in which the heart muscle takes longer to beat between beats. Long QT syndrome is known to cause ventricular arrhythmias known as Torsades de Pointes and lead to death.
TS is also often accompanied by structural heart defects and a range of symptoms that affect the nervous system and other parts of the body.
In general, children with classic Timothy syndrome, also known as type 1 TS, usually experience the following symptoms:
- Cardiac arrhythmia, tachycardia
- Syndactyly (sticky fingers or toes)
- Distinctive facial features: lower ear position, no nose bridge, thin upper lip
- Congenital heart defects
- Small teeth with wide spacing
- Tooth enamel is weak and often cavities
- Thin hair
- Development is hampered
- Frequent infections
Complications of Timothy syndrome can cause other health problems in your child, including:
- Bronchial and sinusinfections : These infections will affect your little one’s breathing. The condition can persist for a long time even when regular antibiotic therapy has been administered. In severe conditions, it can lead to death.
- Extreme hypoglycemia:Blood sugar levels that fall below 36 mg/dL can trigger arrhythmias in children with Timothy syndrome. Especially those who takebeta-blocker drugs which unwittingly give side effects in the form of hypoglycemia.
Meanwhile, the majority of deaths in patients with Timothy syndrome are the result of ventricular tachyarrhythmias. This occurs when the lower chambers of the heart contract rapidly and erratically which eventually causes a sudden heart attack.
Timothy syndrome is caused by a mutation in the CACNA1C gene. This gene gives instructions to the body how to make channels to send calcium to cells. Calcium itself is known to be involved in various physiological functions, including the contraction of the heart and its communication with cells in the body (such as the brain and spinal cord).
In Timothy’s syndrome, the calcium channels in the body open longer than they should, causing calcium to overload cells. When this happens to the heart, its rhythm will be disrupted, triggering arrhythmias to long QT syndrome.
CACNA1C has also long been known to play a role in the development and survival of nerve cells, so that if it is disturbed or imperfect it can affect the body.
Timothy syndrome can be inherited in an autosomal dominant pattern. That is, it only takes one copy of the mutated CACNA1C gene for a child to develop the disorder. Even so, most of today’s cases are the result of new gene mutations because there is no evidence that someone with TS has had children. Meanwhile, the reason why the CACNA1C mutation can occur spontaneously is not yet known.
How to deal with Timothy syndrome
There are treatments as well as several procedures that can be done to improve quality of life and extend the life of a child with Timothy syndrome.
The drugs often used to treat TS are beta-blockerssuch as nadolol or propranolol. It can help maintain a normal QT interval.
In addition, drugs to inhibit the delivery of calcium to cells are also given. And antibiotics may be prescribed by a doctor to treat bacterial infections.
However, it is important to remember that because very few children have Timothy syndrome, there has not been a massively studied treatment for this group of patients.
If the newborn has a severe blockage, a pacemaker may be recommended to help normalize his heartbeat.
Once a child is old enough, they usually get help from an internal defibrillator (ICD) to “shock” the heart if it suddenly stops beating.
Heart surgery may also be needed to correct structural abnormalities. Surgical procedures must be carried out with extreme caution because anesthesia can trigger severe arrhythmias in children with Timothy syndrome.
Psychiatric needs and mental development of children with TS also need to be considered. If you have autism, your communication and socialization problems may need to be developed with behavioral therapy. It could also be with some drugs to control hyperactivity, anxiety, mood disorders and others.
TS is associated with weak tooth enamel and frequent cavities. Therefore, dental hygiene may need to be monitored regularly. And because people with TS may experience arrhythmias from hypoglycemia andbeta-blockertherapy , they need to have regular glucose checks to avoid the side effects of low blood sugar.